Primary Purpose
| primary_purpose | Study_Count |
|---|---|
| Treatment | 55 |
| Diagnostic | 10 |
| Health Services Research | 4 |
| Prevention | 2 |
| Basic Science | 1 |
| Other | 1 |
| Screening | 1 |
Craig Mayer, Nick WIlliams, Vojtech Huser
Lister Hill National Center for Biomedical Communications, National Library of Medicine, NIH, Bethesda, MD
See the full regCTG repository at https://github.com/lhncbc/CRI/tree/master/regCTG
To return to the list of conditions and view other reports go to https://lhncbc.github.io/CRI/regCTG/regCTG-condition_report_links.html
| Type | Study_count |
|---|---|
| Total_Studies | 147 |
| interventional | 74 |
| Observational | 67 |
| Registry | 6 |
```
| intervention_type | Study_Count |
|---|---|
| Drug | 26 |
| Drug|placebo | 18 |
| Genetic | 8 |
| Other | 4 |
| Drug|Other | 3 |
| Procedure | 3 |
| Behavioral | 2 |
| Diagnostic Test | 2 |
| Behavioral|Diagnostic Test | 1 |
| Biological | 1 |
| Biological|placebo | 1 |
| Device | 1 |
| Diagnostic Test|Genetic|Other | 1 |
| Diagnostic Test|Procedure | 1 |
| Drug|Other|placebo | 1 |
| Genetic|Other | 1 |
| Country | Study_Count |
|---|---|
| United States | 28 |
| France | 5 |
| Belgium | 4 |
| Canada | 4 |
| Netherlands | 4 |
| Australia | 2 |
| Netherlands|Romania | 2 |
| Sweden | 2 |
| United Kingdom | 2 |
| United States|Brazil|Canada|Singapore|South Africa|Taiwan|United Kingdom | 2 |
| China | 1 |
| Germany|Israel | 1 |
| Israel | 1 |
| Italy | 1 |
| Japan | 1 |
| Japan|United States|Australia|Brazil|Bulgaria|Canada|China|Hong Kong|India|Jordan|Korea, Republic of|Malaysia|Mexico|Poland|Puerto Rico|Russian Federation|Sri Lanka|Taiwan|Thailand|Turkey | 1 |
| Korea, Republic of | 1 |
| Spain | 1 |
| United States|Argentina|Belgium|Brazil|Bulgaria|Canada|Chile|China|Germany|Israel|Italy|Latvia|Mexico|Netherlands|Poland|Romania|Russian Federation|Serbia|Slovakia|Spain|Taiwan | 1 |
| United States|Australia|Belgium|Brazil|Bulgaria|Canada|Chile|Czechia|France|Germany|Israel|Italy|Korea, Republic of|Poland|Spain|Sweden|Switzerland|Turkey|United Kingdom | 1 |
| United States|Australia|Belgium|Brazil|Canada|Chile|Czechia|France|Germany|Israel|Italy|Korea, Republic of|Poland|Spain|Sweden|Switzerland|Turkey|United Kingdom | 1 |
| United States|Australia|Bulgaria|Canada|Chile|Czechia|Germany|Hungary|Italy|Japan|Korea, Republic of|Latvia|Mexico|Poland|Slovakia|Spain|Taiwan|United Kingdom | 1 |
| United States|Australia|Canada|France|Germany|Israel|Italy|Netherlands|New Zealand|Poland|Spain|United Kingdom | 1 |
| United States|Belgium | 1 |
| United States|Belgium|Canada|France | 1 |
| United States|Belgium|Canada|France|Germany|Netherlands|United Kingdom | 1 |
| United States|Canada|Germany|Italy|United Kingdom | 1 |
| United States|Canada|Germany|Netherlands|Spain|United Kingdom | 1 |
| United States|France|Germany|Netherlands|United Kingdom | 1 |
| Site_count | Study_Count |
|---|---|
| 1 | 40 |
| 2 | 6 |
| 3 | 2 |
| 4 | 2 |
| 5 | 2 |
| 6 | 3 |
| 7 | 2 |
| 8 | 1 |
| 9 | 1 |
| 10 | 1 |
| 15 | 1 |
| 17 | 1 |
| 18 | 1 |
| 19 | 1 |
| 24 | 1 |
| 27 | 1 |
| 28 | 1 |
| 33 | 1 |
| 46 | 1 |
| 55 | 1 |
| 58 | 1 |
| 86 | 1 |
| 216 | 1 |
| 242 | 1 |
| Phase | Study_Count |
|---|---|
| N/A | 20 |
| Phase 2 | 17 |
| Phase 3 | 16 |
| Phase 1/Phase 2 | 8 |
| Phase 2/Phase 3 | 5 |
| Phase 1 | 4 |
| Phase 4 | 4 |
| Number_of_Arms | Count_of_Studies |
|---|---|
| 1 | 24 |
| 2 | 35 |
| 3 | 5 |
| 4 | 3 |
| 5 | 3 |
| 9 | 1 |
| 10 | 1 |
| NA | 2 |
| Measure | N.A | Phase.1 | Phase.1.Phase.2 | Phase.2 | Phase.2.Phase.3 | Phase.3 | Phase.4 |
|---|---|---|---|---|---|---|---|
| Min. | 10.00 | 8.0 | 11.00 | 14.00000 | 14 | 22.00 | 30.00 |
| 1st Qu. | 68.75 | 15.5 | 17.00 | 20.00000 | 30 | 50.75 | 30.75 |
| Median | 292.00 | 24.0 | 21.50 | 26.00000 | 60 | 89.50 | 48.00 |
| Mean | 11471.70 | 29.5 | 24.50 | 52.64706 | 57 | 222.25 | 57.25 |
| 3rd Qu. | 1207.50 | 38.0 | 31.25 | 78.00000 | 80 | 221.75 | 74.50 |
| Max. | 102000.00 | 62.0 | 45.00 | 200.00000 | 101 | 1223.00 | 103.00 |
| group_type | Group_Count |
|---|---|
| Experimental | 86 |
| Placebo Comparator | 29 |
| Active Comparator | 21 |
| Other | 12 |
| No Intervention | 5 |
| Sham Comparator | 2 |
| NA | 2 |
| intervention_model | Study_Count |
|---|---|
| Parallel Assignment | 42 |
| Single Group Assignment | 27 |
| Sequential Assignment | 3 |
| Crossover Assignment | 2 |
| primary_purpose | Study_Count |
|---|---|
| Treatment | 55 |
| Diagnostic | 10 |
| Health Services Research | 4 |
| Prevention | 2 |
| Basic Science | 1 |
| Other | 1 |
| Screening | 1 |
| Country | Study_Count |
|---|---|
| United States | 28 |
| France | 5 |
| China | 4 |
| Japan | 4 |
| NA | 3 |
| United States|Canada | 3 |
| Denmark | 2 |
| Germany | 2 |
| Argentina|Belgium|Czechia|Denmark|Finland|France|Germany|Hungary|Ireland|Israel|Italy|Lithuania|Luxembourg|Netherlands|Norway|Russian Federation|Saudi Arabia|Serbia|Slovenia|Spain|Sweden|Switzerland|United Kingdom | 1 |
| Denmark|Germany|Switzerland | 1 |
| Hong Kong | 1 |
| Israel | 1 |
| Korea, Republic of | 1 |
| Netherlands | 1 |
| South Africa | 1 |
| Spain | 1 |
| United Arab Emirates | 1 |
| United Kingdom | 1 |
| United States|Australia|Canada|Thailand | 1 |
| United States|Finland|Iceland|Sweden | 1 |
| United States|France|Germany|Netherlands | 1 |
| United States|Germany|Italy | 1 |
| United States|Sierra Leone | 1 |
| United States|Turkey | 1 |
| Site_count | Study_Count |
|---|---|
| 1 | 47 |
| 2 | 5 |
| 3 | 3 |
| 4 | 1 |
| 5 | 1 |
| 7 | 2 |
| 8 | 2 |
| 9 | 2 |
| 11 | 1 |
| 17 | 1 |
| 22 | 1 |
| 23 | 1 |
| Measure | Observational |
|---|---|
| Min | 3.000 |
| 1st Qu | 79.000 |
| Median | 395.000 |
| Mean | 2897.881 |
| 3rd Qu | 1145.000 |
| Max | 100000.000 |
| observational_model | Study_Count |
|---|---|
| Cohort | 35 |
| Case-Only | 9 |
| Other | 6 |
| Family-Based | 5 |
| NA | 5 |
| Case-Control | 4 |
| Case Control | 2 |
| Ecologic or Community | 1 |
| time_perspective | Study_Count |
|---|---|
| Prospective | 41 |
| Cross-Sectional | 11 |
| Retrospective | 6 |
| Other | 5 |
| NA | 4 |
| Country | Study_Count |
|---|---|
| United States | 3 |
| Italy | 1 |
| Netherlands | 1 |
| Turkey | 1 |
| Site_count | Study_Count |
|---|---|
| 1 | 4 |
| 3 | 1 |
| 9 | 1 |
| Measure | Registries |
|---|---|
| Min | 1.000 |
| 1st Qu | 158.500 |
| Median | 342.000 |
| Mean | 1401.833 |
| 3rd Qu | 2057.000 |
| Max | 5000.000 |
| observational_model | Study_Count |
|---|---|
| Cohort | 3 |
| Case-Only | 2 |
| Case Control | 1 |
| time_perspective | Study_Count |
|---|---|
| Prospective | 4 |
| Cross-Sectional | 1 |
| Other | 1 |
| target_duration | Study_Count |
|---|---|
| 3 Years | 3 |
| 1 Day | 1 |
| 6 Months | 1 |
| 8 Years | 1 |
#If less then 500 trials
| nct_id | brief_title | link | overall_status | source | primary_completion_date |
|---|---|---|---|---|---|
| NCT03479476 | A Trial of Metformin in Individuals With Fragile X Syndrome | https://ClinicalTrials.gov/show/NCT03479476 | Recruiting | University of California, Davis | 2021-05-31 |
| NCT03406780 | A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy | https://ClinicalTrials.gov/show/NCT03406780 | Completed | Capricor Inc. | 2020-03-10 |
| NCT03380819 | The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care | https://ClinicalTrials.gov/show/NCT03380819 | Enrolling by invitation | VA Boston Healthcare System | 2020-12-31 |
| NCT03342495 | Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator Trial | https://ClinicalTrials.gov/show/NCT03342495 | Recruiting | University of Calgary | 2019-12-31 |
| NCT03309605 | Phase 1 Study of ELX-02 in Healthy Adult Subjects | https://ClinicalTrials.gov/show/NCT03309605 | Completed | Eloxx Pharmaceuticals, Inc. | 2019-06-17 |
| NCT03301038 | Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria | https://ClinicalTrials.gov/show/NCT03301038 | Recruiting | Children’s Hospital of Philadelphia | 2023-12-31 |
| NCT03292302 | Phase 1 Study of ELX-02 in Healthy Adults | https://ClinicalTrials.gov/show/NCT03292302 | Completed | Eloxx Pharmaceuticals, Inc. | 2017-12-15 |
| NCT03211039 | Perinatal Precision Medicine | https://ClinicalTrials.gov/show/NCT03211039 | Active, not recruiting | Rady Pediatric Genomics & Systems Medicine Institute | 2019-08-30 |
| NCT03179631 | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy | https://ClinicalTrials.gov/show/NCT03179631 | Recruiting | PTC Therapeutics | 2023-09-05 |
| NCT03013543 | Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity | https://ClinicalTrials.gov/show/NCT03013543 | Recruiting | Rhythm Pharmaceuticals, Inc. | 2021-05-31 |
| NCT02917460 | Rady Children’s Institute Genomic Biorepository | https://ClinicalTrials.gov/show/NCT02917460 | Recruiting | Rady Pediatric Genomics & Systems Medicine Institute | 2050-12-31 |
| NCT02777931 | Efficacy and Safety of NFC-1 in Adolescents With Genetic Disorders Impacting mGluR and ADHD | https://ClinicalTrials.gov/show/NCT02777931 | Completed | Aevi Genomic Medicine, LLC, a Cerecor company | 2017-02-10 |
| NCT02642653 | Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome | https://ClinicalTrials.gov/show/NCT02642653 | Completed | University of California, Davis | 2018-07-31 |
| NCT02826694 | North Carolina Newborn Exome Sequencing for Universal Screening | https://ClinicalTrials.gov/show/NCT02826694 | Completed | University of North Carolina, Chapel Hill | 2019-06-30 |
| NCT02422511 | Genomic Sequencing for Childhood Risk and Newborn Illness | https://ClinicalTrials.gov/show/NCT02422511 | Active, not recruiting | Brigham and Women’s Hospital | 2020-04-30 |
| NCT03385876 | Rapid Whole Genome Sequencing Study | https://ClinicalTrials.gov/show/NCT03385876 | Enrolling by invitation | Rady Pediatric Genomics & Systems Medicine Institute | 2050-12-31 |
| NCT02225522 | Genomic Sequencing in Acutely Ill Neonates | https://ClinicalTrials.gov/show/NCT02225522 | Completed | Children’s Mercy Hospital Kansas City | 2016-07-31 |
| NCT02090959 | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy | https://ClinicalTrials.gov/show/NCT02090959 | Completed | PTC Therapeutics | 2018-06-21 |
| NCT03354013 | Genetic Screening and Assisted Oocyte Activation in Couples With Diminished/Aberrant Embryonic Development. | https://ClinicalTrials.gov/show/NCT03354013 | Recruiting | University Hospital, Ghent | 2021-12-31 |
| NCT01927861 | Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome | https://ClinicalTrials.gov/show/NCT01927861 | Completed | Novo Nordisk A/S | 2018-07-12 |
| NCT01902901 | Clinical Implementation of Carrier Status Using Next Generation Sequencing | https://ClinicalTrials.gov/show/NCT01902901 | Completed | Kaiser Permanente | 2017-01-31 |
| NCT01826487 | Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy | https://ClinicalTrials.gov/show/NCT01826487 | Completed | PTC Therapeutics | 2015-08-31 |
| NCT01793090 | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment | https://ClinicalTrials.gov/show/NCT01793090 | Completed | Bambino Gesù Hospital and Research Institute | 2013-07-31 |
| NCT01734486 | Growth Response in Girls With Turner Syndrome | https://ClinicalTrials.gov/show/NCT01734486 | Completed | Novo Nordisk A/S | 2003-05-21 |
| NCT01727973 | Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves’ Orbitopathy | https://ClinicalTrials.gov/show/NCT01727973 | Completed | Sun Yat-sen University | 2013-11-30 |
| NCT01710696 | Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome | https://ClinicalTrials.gov/show/NCT01710696 | Completed | Novo Nordisk A/S | 2004-07-26 |
| NCT01631617 | Effects of Treatments on Atopic Dermatitis | https://ClinicalTrials.gov/show/NCT01631617 | Recruiting | National Institutes of Health Clinical Center (CC) | 2022-01-01 |
| NCT01563926 | Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency | https://ClinicalTrials.gov/show/NCT01563926 | Completed | Novo Nordisk A/S | 2002-10-10 |
| NCT01529840 | Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome | https://ClinicalTrials.gov/show/NCT01529840 | Completed | Novo Nordisk A/S | 2005-09-30 |
| NCT01518036 | Use of Somatropin in Turner Syndrome | https://ClinicalTrials.gov/show/NCT01518036 | Completed | Novo Nordisk A/S | 2004-04-11 |
| NCT01401257 | Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A | https://ClinicalTrials.gov/show/NCT01401257 | Completed | Pharnext SA | 2011-10-31 |
| NCT01401244 | Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers | https://ClinicalTrials.gov/show/NCT01401244 | Completed | Novo Nordisk A/S | 2011-09-27 |
| NCT01399515 | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa | https://ClinicalTrials.gov/show/NCT01399515 | Completed | Seoul National University Hospital | 2013-08-31 |
| NCT01343953 | Cord Blood Transplantation in Severe Aplastic Anemia | https://ClinicalTrials.gov/show/NCT01343953 | Completed | Assistance Publique - Hôpitaux de Paris | 2017-06-30 |
| NCT04157595 | Mackenzie’s Mission: The Australian Reproductive Carrier Screening Project | https://ClinicalTrials.gov/show/NCT04157595 | Enrolling by invitation | Murdoch Childrens Research Institute | 2021-12-31 |
| NCT04126473 | A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele | https://ClinicalTrials.gov/show/NCT04126473 | Recruiting | Eloxx Pharmaceuticals, Inc. | 2020-05-15 |
| NCT04123626 | A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene | https://ClinicalTrials.gov/show/NCT04123626 | Recruiting | ProQR Therapeutics | 2021-10-07 |
| NCT04042402 | Long Term Extension Study in Patients With Primary Hyperoxaluria | https://ClinicalTrials.gov/show/NCT04042402 | Enrolling by invitation | Dicerna Pharmaceuticals, Inc. | 2023-12-31 |
| NCT03913143 | A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) | https://ClinicalTrials.gov/show/NCT03913143 | Recruiting | ProQR Therapeutics | 2020-12-31 |
| NCT03913130 | Extension Study to Study PQ-110-001 (NCT03140969) | https://ClinicalTrials.gov/show/NCT03913130 | Active, not recruiting | ProQR Therapeutics | 2021-03-31 |
| NCT03873285 | Method of Genetic Analysis in Genodermatoses | https://ClinicalTrials.gov/show/NCT03873285 | Recruiting | Queen Fabiola Children’s University Hospital | 2021-11-30 |
| NCT03872479 | Single Ascending Dose Study in Participants With LCA10 | https://ClinicalTrials.gov/show/NCT03872479 | Recruiting | Allergan | 2024-03-22 |
| NCT03862950 | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) | https://ClinicalTrials.gov/show/NCT03862950 | Recruiting | University of Alberta | 2022-05-31 |
| NCT03861741 | A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases | https://ClinicalTrials.gov/show/NCT03861741 | Active, not recruiting | University of Leicester | 2020-12-31 |
| NCT03847909 | A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 | https://ClinicalTrials.gov/show/NCT03847909 | Recruiting | Dicerna Pharmaceuticals, Inc. | 2020-06-30 |
| NCT03829176 | Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder | https://ClinicalTrials.gov/show/NCT03829176 | Active, not recruiting | Massachusetts General Hospital | 2020-06-01 |
| NCT03734588 | Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors | https://ClinicalTrials.gov/show/NCT03734588 | Active, not recruiting | Spark Therapeutics | 2020-05-31 |
| NCT03720470 | Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical Therapy | https://ClinicalTrials.gov/show/NCT03720470 | Completed | Pfizer | 2019-12-27 |
| NCT03718234 | Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia | https://ClinicalTrials.gov/show/NCT03718234 | Recruiting | University of Minnesota | 2022-07-01 |
| NCT03688594 | Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities | https://ClinicalTrials.gov/show/NCT03688594 | Recruiting | University Hospital, Strasbourg, France | 2019-05-22 |
| NCT03655678 | A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia | https://ClinicalTrials.gov/show/NCT03655678 | Recruiting | Vertex Pharmaceuticals Incorporated | 2021-02-28 |
| NCT03627767 | Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects | https://ClinicalTrials.gov/show/NCT03627767 | Active, not recruiting | Pfizer | 2020-08-27 |
| NCT03563066 | Effect of Benralizumab in Atopic Dermatitis | https://ClinicalTrials.gov/show/NCT03563066 | Recruiting | McMaster University | 2019-07-31 |
| NCT03548779 | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 | https://ClinicalTrials.gov/show/NCT03548779 | Recruiting | University of North Carolina, Chapel Hill | 2021-05-31 |
| NCT03420274 | Ensuring Patients’ Informed Access to Noninvasive Prenatal Testing | https://ClinicalTrials.gov/show/NCT03420274 | Recruiting | The Cleveland Clinic | 2021-01-31 |
| NCT01245374 | Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents | https://ClinicalTrials.gov/show/NCT01245374 | Completed | Novo Nordisk A/S | 2011-04-30 |
| NCT00851409 | A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration | https://ClinicalTrials.gov/show/NCT00851409 | Completed | Pharming Technologies B.V. | 2010-03-31 |
| NCT01518062 | Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome | https://ClinicalTrials.gov/show/NCT01518062 | Completed | Novo Nordisk A/S | 2003-09-30 |
| NCT01529944 | Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 | https://ClinicalTrials.gov/show/NCT01529944 | Completed | Novo Nordisk A/S | 2008-10-31 |
| NCT02717650 | The Alfred Step Test Exercise Protocol Developed for Adults With Cystic Fibrosis: The A-STEP and A-STEPmax Study’s. | https://ClinicalTrials.gov/show/NCT02717650 | Recruiting | The Alfred | 2020-08-31 |
| NCT03780257 | Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene | https://ClinicalTrials.gov/show/NCT03780257 | Recruiting | ProQR Therapeutics | 2021-12-31 |
| NCT03738098 | NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children | https://ClinicalTrials.gov/show/NCT03738098 | Active, not recruiting | Icahn School of Medicine at Mount Sinai | 2020-09-30 |
| NCT00730314 | Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells | https://ClinicalTrials.gov/show/NCT00730314 | Completed | Children’s Hospital Los Angeles | 2015-08-31 |
| NCT00694109 | An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia | https://ClinicalTrials.gov/show/NCT00694109 | Completed | Kastle Therapeutics, LLC | 2014-09-30 |
| NCT00607373 | Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia | https://ClinicalTrials.gov/show/NCT00607373 | Completed | Kastle Therapeutics, LLC | 2009-03-31 |
| NCT00578435 | Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis | https://ClinicalTrials.gov/show/NCT00578435 | Completed | Memorial Sloan Kettering Cancer Center | 2008-08-31 |
| NCT00477594 | Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia | https://ClinicalTrials.gov/show/NCT00477594 | Completed | Kastle Therapeutics, LLC | 2011-03-31 |
| NCT00458055 | High-Density Lipoprotein (HDL) Treatment Study | https://ClinicalTrials.gov/show/NCT00458055 | Completed | McGill University Health Centre/Research Institute of the McGill University Health Centre | 2007-09-30 |
| NCT00362180 | Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration | https://ClinicalTrials.gov/show/NCT00362180 | Completed | Kastle Therapeutics, LLC | 2010-03-31 |
| NCT00288704 | Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) | https://ClinicalTrials.gov/show/NCT00288704 | Completed | Regeneron Pharmaceuticals | 2008-06-30 |
| NCT00262301 | Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema | https://ClinicalTrials.gov/show/NCT00262301 | Completed | Pharming Technologies B.V. | 2009-07-31 |
| NCT00262288 | Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema | https://ClinicalTrials.gov/show/NCT00262288 | Completed | Pharming Technologies B.V. | 2007-01-31 |
| NCT00261053 | Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema | https://ClinicalTrials.gov/show/NCT00261053 | Completed | Pharming Technologies B.V. | 2005-09-30 |
| NCT00100230 | DHA and X-Linked Retinitis Pigmentosa | https://ClinicalTrials.gov/show/NCT00100230 | Completed | Retina Foundation of the Southwest | 2012-05-31 |
#If less then 500 studies
| nct_id | brief_title | link | overall_status | source | primary_completion_date |
|---|---|---|---|---|---|
| NCT03435627 | Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) | https://ClinicalTrials.gov/show/NCT03435627 | Active, not recruiting | Novo Nordisk A/S | 2021-11-30 |
| NCT03396042 | Natural History Study of CEP290-Related Retinal Degeneration | https://ClinicalTrials.gov/show/NCT03396042 | Recruiting | Allergan | 2020-12-31 |
| NCT03401307 | Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple Sclerosis | https://ClinicalTrials.gov/show/NCT03401307 | Active, not recruiting | University of Southern Denmark | 2020-07-31 |
| NCT03291392 | CUHK Stroke Biobank | https://ClinicalTrials.gov/show/NCT03291392 | Recruiting | Chinese University of Hong Kong | 2025-12-31 |
| NCT03065114 | Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage | https://ClinicalTrials.gov/show/NCT03065114 | Completed | Chung Shan Medical University | 2015-11-30 |
| NCT03043209 | Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy | https://ClinicalTrials.gov/show/NCT03043209 | Recruiting | The Cleveland Clinic | 2020-12-31 |
| NCT02946879 | Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) | https://ClinicalTrials.gov/show/NCT02946879 | Recruiting | MeiraGTx UK II Ltd | 2023-04-30 |
| NCT02921321 | Pilot Study of Cardiac MR in Patients With Muscular Dystrophy | https://ClinicalTrials.gov/show/NCT02921321 | Recruiting | Children’s National Research Institute | 2023-08-31 |
| NCT02916888 | A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and Specialists | https://ClinicalTrials.gov/show/NCT02916888 | Completed | Yale University | 2017-12-31 |
| NCT02884063 | Utilizing Free DNA in Embryo Culture for PGS | https://ClinicalTrials.gov/show/NCT02884063 | Completed | Al Baraka Fertility Hospital | 2018-12-01 |
| NCT02769949 | Pediatric Patients With Metabolic or Other Genetic Disorders | https://ClinicalTrials.gov/show/NCT02769949 | Recruiting | National Institutes of Health Clinical Center (CC) | 2029-01-01 |
| NCT02670694 | Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW | https://ClinicalTrials.gov/show/NCT02670694 | Completed | Baylor College of Medicine | 2013-07-31 |
| NCT02650622 | Genetic and Metabolic Disease in Children | https://ClinicalTrials.gov/show/NCT02650622 | Recruiting | University of Texas Southwestern Medical Center | 2022-05-31 |
| NCT02257892 | Novel Genetic Disorders of the Immune System | https://ClinicalTrials.gov/show/NCT02257892 | Recruiting | National Institutes of Health Clinical Center (CC) | 2023-08-31 |
| NCT00246857 | Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death | https://ClinicalTrials.gov/show/NCT00246857 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
| NCT02450851 | Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network | https://ClinicalTrials.gov/show/NCT02450851 | Recruiting | National Institutes of Health Clinical Center (CC) | 2028-12-31 |
| NCT01500447 | Inherited Reproductive Disorders | https://ClinicalTrials.gov/show/NCT01500447 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
| NCT00001373 | Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics | https://ClinicalTrials.gov/show/NCT00001373 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
| NCT02551081 | Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units | https://ClinicalTrials.gov/show/NCT02551081 | Recruiting | Children’s Hospital of Fudan University | 2020-12-30 |
| NCT02429947 | An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients | https://ClinicalTrials.gov/show/NCT02429947 | Completed | University of South Florida | 2013-06-30 |
| NCT02416440 | Durban Diabetes Study:A Study of the Epidemiology of Diabetes Mellitus in Urban South Africans of African Descent (DDS) | https://ClinicalTrials.gov/show/NCT02416440 | Completed | University of KwaZulu | 2015-02-28 |
| NCT02380729 | Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality | https://ClinicalTrials.gov/show/NCT02380729 | Completed | Charite University, Berlin, Germany | 2017-06-30 |
| NCT02266615 | Biobank Clinical Genetics Maastricht (KG01) | https://ClinicalTrials.gov/show/NCT02266615 | Recruiting | Maastricht University Medical Center | 2018-03-31 |
| NCT02156102 | Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study) | https://ClinicalTrials.gov/show/NCT02156102 | Recruiting | National Institutes of Health Clinical Center (CC) | 2021-12-31 |
| NCT01279733 | Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis | https://ClinicalTrials.gov/show/NCT01279733 | Completed | Columbia University | 2011-10-31 |
| NCT01851447 | Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy | https://ClinicalTrials.gov/show/NCT01851447 | Active, not recruiting | National Institutes of Health Clinical Center (CC) | 2021-02-20 |
| NCT01694940 | North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | https://ClinicalTrials.gov/show/NCT01694940 | Recruiting | Columbia University | 2025-12-31 |
| NCT01645904 | A Social Media Approach to Improve Genetic Risk Communication Phase I | https://ClinicalTrials.gov/show/NCT01645904 | Active, not recruiting | M.D. Anderson Cancer Center | 2020-02-29 |
| NCT01604161 | Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner Syndrome | https://ClinicalTrials.gov/show/NCT01604161 | Completed | Novo Nordisk A/S | 2015-06-30 |
| NCT01543867 | Safety and Efficacy of Long-term Somatropin Treatment in Children | https://ClinicalTrials.gov/show/NCT01543867 | Completed | Novo Nordisk A/S | 2011-12-31 |
| NCT01517048 | Brain-Derived Neurotrophic Factor in Obesity and Brain Function | https://ClinicalTrials.gov/show/NCT01517048 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT01516229 | Special Survey for Long Term Application | https://ClinicalTrials.gov/show/NCT01516229 | Completed | Novo Nordisk A/S | 2007-03-31 |
| NCT01435629 | A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin | https://ClinicalTrials.gov/show/NCT01435629 | Completed | Novo Nordisk A/S | 2015-12-04 |
| NCT01327924 | Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone | https://ClinicalTrials.gov/show/NCT01327924 | Completed | Novo Nordisk A/S | 2012-06-30 |
| NCT04428710 | Assessment Psychological Distress for Cancer Heredity Test | https://ClinicalTrials.gov/show/NCT04428710 | Recruiting | Hospital Universitario La Fe | 2020-12-31 |
| NCT04399694 | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders | https://ClinicalTrials.gov/show/NCT04399694 | Recruiting | Duke University | 2022-04-30 |
| NCT04208529 | A Long-term Follow-up Study in Subjects Who Received CTX001 | https://ClinicalTrials.gov/show/NCT04208529 | Enrolling by invitation | Vertex Pharmaceuticals Incorporated | 2039-09-30 |
| NCT03998540 | Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy | https://ClinicalTrials.gov/show/NCT03998540 | Recruiting | University Hospital, Montpellier | 2021-06-30 |
| NCT03984266 | The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects | https://ClinicalTrials.gov/show/NCT03984266 | Recruiting | Children’s Hospital of Chongqing Medical University | 2021-07-31 |
| NCT03918707 | Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study | https://ClinicalTrials.gov/show/NCT03918707 | Recruiting | University of Illinois College of Medicine at Peoria | 2022-01-31 |
| NCT03911531 | Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops | https://ClinicalTrials.gov/show/NCT03911531 | Recruiting | Thomas Jefferson University | 2021-06-30 |
| NCT03884426 | Genetic and Phenotypic Characteristics of Mitral Valve Prolapse | https://ClinicalTrials.gov/show/NCT03884426 | Recruiting | Nantes University Hospital | 2019-12-31 |
| NCT03855631 | Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders | https://ClinicalTrials.gov/show/NCT03855631 | Active, not recruiting | University Hospital, Montpellier | 2019-10-30 |
| NCT03802279 | Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses | https://ClinicalTrials.gov/show/NCT03802279 | Recruiting | Assistance Publique - Hôpitaux de Paris | 2021-06-25 |
| NCT03721458 | Whole Genome Sequencing in the Neonatal Intensive Care Unit | https://ClinicalTrials.gov/show/NCT03721458 | Enrolling by invitation | Milton S. Hershey Medical Center | 2021-06-30 |
| NCT03642405 | Drug-induced Repolarization ECG Changes | https://ClinicalTrials.gov/show/NCT03642405 | Active, not recruiting | Copenhagen University Hospital at Herlev | 2019-09-03 |
| NCT03589079 | Delineation of Novel Monogenic Disorders in the United Arab Emirates Population | https://ClinicalTrials.gov/show/NCT03589079 | Recruiting | Imperial College London Diabetes Centre | 2021-01-31 |
| NCT03587155 | Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation | https://ClinicalTrials.gov/show/NCT03587155 | Recruiting | First Hospital of Jilin University | 2018-12-31 |
| NCT03458962 | Diagnostic Odyssey: Whole Genome Sequencing (WGS) | https://ClinicalTrials.gov/show/NCT03458962 | Enrolling by invitation | Nicklaus Children’s Hospital f/k/a Miami Children’s Hospital | 2070-03-31 |
| NCT01025024 | Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients | https://ClinicalTrials.gov/show/NCT01025024 | Completed | Chungnam National University | 2009-10-31 |
| NCT00960128 | Observational Prospective Study on Patients Treated With Norditropin® | https://ClinicalTrials.gov/show/NCT00960128 | Completed | Novo Nordisk A/S | 2016-12-31 |
| NCT00852943 | Screening Protocol for Genetic Diseases of Allergic Inflammation | https://ClinicalTrials.gov/show/NCT00852943 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
| NCT03931707 | The China Neonatal Genomes Project | https://ClinicalTrials.gov/show/NCT03931707 | Recruiting | Children’s Hospital of Fudan University | 2021-12-30 |
| NCT03624374 | Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) | https://ClinicalTrials.gov/show/NCT03624374 | Recruiting | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. | 2023-05-31 |
| NCT00811512 | Fundus Changes in the Microphthalmy Eyes | https://ClinicalTrials.gov/show/NCT00811512 | Completed | Hospital de Olhos Sadalla Amin Ghanem | 2008-09-30 |
| NCT01294345 | Personalized Genomic Research | https://ClinicalTrials.gov/show/NCT01294345 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
| NCT00368446 | Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease | https://ClinicalTrials.gov/show/NCT00368446 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT03876301 | Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants | https://ClinicalTrials.gov/show/NCT03876301 | Active, not recruiting | Spark Therapeutics | 2020-07-31 |
| NCT00705172 | Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome | https://ClinicalTrials.gov/show/NCT00705172 | Completed | Novo Nordisk A/S | 2008-11-30 |
| NCT00705055 | Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders. | https://ClinicalTrials.gov/show/NCT00705055 | Completed | Carmel Medical Center | 2013-12-30 |
| NCT00359580 | Genetic Studies in the Amish and Mennonites | https://ClinicalTrials.gov/show/NCT00359580 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT00359411 | Genetic Studies of X-linked Lymphoproliferative Disease | https://ClinicalTrials.gov/show/NCT00359411 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT00323167 | Rare Genetic Disorders of the Breathing Airways | https://ClinicalTrials.gov/show/NCT00323167 | Completed | University of North Carolina, Chapel Hill | 2012-10-31 |
| NCT00001466 | Study of Clinical and Molecular Manifestations of Genetic Disorders | https://ClinicalTrials.gov/show/NCT00001466 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT00025870 | Studies of Children With Metabolic and Other Genetic Disorders | https://ClinicalTrials.gov/show/NCT00025870 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT00001898 | Microarray Analysis for Human Genetic Disease | https://ClinicalTrials.gov/show/NCT00001898 | Completed | National Institutes of Health Clinical Center (CC) | NA |
| NCT00001405 | Use of G-CSF to Obtain Blood Cell Precursors | https://ClinicalTrials.gov/show/NCT00001405 | Recruiting | National Institutes of Health Clinical Center (CC) | NA |
#If less then 500 registries
| nct_id | brief_title | link | overall_status | source | primary_completion_date |
|---|---|---|---|---|---|
| NCT03321604 | Kidney Information Network for Disease Research and Education | https://ClinicalTrials.gov/show/NCT03321604 | Recruiting | Massachusetts General Hospital | 2022-01-31 |
| NCT03084224 | Implementation of Molecular Diagnostic Pathways | https://ClinicalTrials.gov/show/NCT03084224 | Recruiting | Neuromed IRCCS | 2019-12-31 |
| NCT02917070 | Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population | https://ClinicalTrials.gov/show/NCT02917070 | Completed | Istanbul University | 2016-05-31 |
| NCT02160938 | Prenatal Microarray Follow-Up Study | https://ClinicalTrials.gov/show/NCT02160938 | Completed | Columbia University | 2018-12-31 |
| NCT03967743 | Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders | https://ClinicalTrials.gov/show/NCT03967743 | Recruiting | Boston Children’s Hospital | 2024-06-01 |
| NCT03963271 | Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrillation. | https://ClinicalTrials.gov/show/NCT03963271 | Enrolling by invitation | Maastricht University Medical Center | 2023-04-10 |